A2RU30
Gene name |
TESPA1 (KIAA0748, HSPC257) |
Protein name |
Protein TESPA1 |
Names |
Thymocyte-expressed positive selection-associated protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9840 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for A2RU30
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A2RU30-F1 | Predicted | AlphaFoldDB |
456 variants for A2RU30
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390408675 CA385155916 |
2 | E>Q | No |
ClinGen gnomAD |
|
|
CA237503009 rs765306333 |
2 | E>V | No |
ClinGen Ensembl |
|
|
rs113518906 CA385155890 |
3 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113518906 CA6611494 |
3 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611492 rs529649457 |
5 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866189777 CA237502979 |
7 | S>I | No |
ClinGen TOPMed |
|
|
rs866189777 CA385155820 |
7 | S>N | No |
ClinGen TOPMed |
|
|
rs1481915725 CA385155717 |
11 | W>C | No |
ClinGen gnomAD |
|
|
rs1197251913 CA385155729 |
11 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6611490 rs752877123 |
12 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200900573 CA385155711 |
12 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA237502969 rs200900573 |
12 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs765811121 CA6611489 |
13 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385155638 rs777006298 |
14 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611487 rs777006298 |
14 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760153858 CA6611488 |
14 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs202144033 CA6611485 |
15 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776869070 CA6611486 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385155607 rs1592414357 |
17 | W>G | No |
ClinGen Ensembl |
|
|
rs1393003375 CA385155588 |
18 | L>F | No |
ClinGen gnomAD |
|
|
CA6611484 rs773870688 |
19 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611483 rs62623446 |
19 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611482 rs748773318 |
20 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201493678 CA6611481 |
21 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745812575 CA6611479 COSM1255611 |
22 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6611478 rs375755904 |
22 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385155507 rs1179756295 |
23 | N>K | No |
ClinGen gnomAD |
|
|
rs1442274453 CA385155474 |
24 | W>* | No |
ClinGen gnomAD |
|
|
rs757003053 CA6611477 |
24 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611474 rs201481040 CA6611473 |
31 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385155329 rs778122709 |
31 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237502825 rs973392036 |
31 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 31 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778122709 CA6611475 |
31 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765431142 CA6611472 |
33 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs866259394 CA237502767 |
34 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 34 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754305689 CA6611470 |
35 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385155251 rs1359487447 COSM941209 |
35 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs369460871 CA237502739 |
36 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369460871 CA6611468 |
36 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563892525 CA6611467 |
37 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6611465 rs762623373 |
39 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1385041581 CA385155169 |
39 | D>Y | No |
ClinGen gnomAD |
|
|
CA385155139 rs1425467354 |
40 | V>A | No |
ClinGen gnomAD |
|
|
CA6611464 rs774929485 |
40 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745747787 CA6611462 |
41 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385155074 rs1455391162 |
44 | E>D | No |
ClinGen gnomAD |
|
|
CA385155052 rs1364499907 |
47 | S>C | No |
ClinGen gnomAD |
|
|
CA237502722 rs972300197 |
49 | D>G | No |
ClinGen Ensembl |
|
|
CA6611461 rs770953624 |
50 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs746752631 CA6611459 |
51 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6611457 rs758647001 |
52 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6611455 rs371973691 |
54 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611454 rs755007871 |
55 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611427 rs201661060 |
56 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573829374 CA6611426 |
58 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181424097 CA385154737 |
62 | E>A | No |
ClinGen gnomAD |
|
|
CA6611424 rs759266950 |
63 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436021998 CA385154676 |
66 | Q>H | No |
ClinGen gnomAD |
|
|
rs1274769108 CA385154669 |
67 | D>H | No |
ClinGen gnomAD |
|
| rs368284651 | 68 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374220442 CA6611419 |
69 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611420 rs773279415 CA6611421 |
69 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs374220442 CA385154632 |
69 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557305100 CA6611387 |
70 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385153690 rs1262243069 |
72 | E>K | Variant assessed as Somatic; 4.662e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1346431045 CA385153674 |
74 | G>R | No |
ClinGen TOPMed |
|
|
CA385153669 rs1186098968 |
74 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758788351 CA6611385 |
75 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA385153666 rs1565856553 |
75 | F>V | No |
ClinGen Ensembl |
|
|
CA237497029 rs1019447115 |
76 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 76 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385153646 rs1404788713 |
78 | E>* | No |
ClinGen gnomAD |
|
|
CA6611383 rs568457749 |
79 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385153614 rs1261786612 |
82 | F>L | No |
ClinGen gnomAD |
|
|
rs1008904616 CA237497012 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
CA385153595 rs1592377830 |
85 | N>S | No |
ClinGen Ensembl |
|
|
CA6611369 rs773758607 |
86 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463308663 CA385153568 |
87 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772505149 CA6611368 |
87 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA385153571 rs1296441335 |
87 | F>S | No |
ClinGen gnomAD |
|
|
CA385153561 rs1354933203 |
88 | C>* | No |
ClinGen gnomAD |
|
|
CA237496511 rs375638700 |
89 | S>N | No |
ClinGen ESP |
|
|
CA6611367 rs748513459 |
89 | S>R | No |
ClinGen ExAC |
|
|
CA385153539 rs1169419775 |
92 | T>A | No |
ClinGen gnomAD |
|
|
CA385153534 rs1444258095 |
92 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1383393582 CA385153527 |
93 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779176792 CA6611366 |
94 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359221146 CA385153509 |
96 | D>N | No |
ClinGen TOPMed |
|
|
rs1176026741 CA385153490 |
98 | L>F | No |
ClinGen gnomAD |
|
|
CA6611364 rs745527722 |
98 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385153484 rs1481801018 |
99 | T>S | No |
ClinGen gnomAD |
|
|
CA6611362 rs374110781 |
102 | A>V | Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6611346 rs372384077 |
105 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611344 rs200958597 |
109 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611343 rs200958597 |
109 | A>T | Variant assessed as Somatic; 0.0005579 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6611341 rs139412167 |
110 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611340 rs778891779 |
110 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6611342 rs139412167 |
110 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176397379 CA385153410 |
111 | G>S | No |
ClinGen gnomAD |
|
|
CA237495767 rs900647854 |
112 | K>T | No |
ClinGen Ensembl |
|
|
rs1389521602 CA385153325 |
117 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1389521602 CA385153327 |
117 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs61956830 CA6611329 |
120 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237495482 rs61956830 |
120 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770571350 CA6611328 |
121 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA385153260 rs1300476232 |
123 | R>K | No |
ClinGen TOPMed |
|
|
rs896462651 CA237495469 |
124 | P>T | No |
ClinGen Ensembl |
|
|
rs1194934981 CA385153205 |
128 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385153180 rs1399074924 |
131 | G>D | No |
ClinGen TOPMed |
|
|
rs1242013318 CA385153170 |
132 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385153136 rs1462602189 |
134 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1201628953 CA385153139 |
134 | L>S | No |
ClinGen gnomAD |
|
|
rs1279331623 CA385153132 |
135 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1279331623 CA385153133 |
135 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs11543031 CA237495413 |
138 | S>T | No |
ClinGen Ensembl |
|
|
rs760950444 CA237495408 |
139 | M>T | No |
ClinGen Ensembl |
|
|
CA237495403 rs188445764 |
141 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs865817012 CA237495369 |
141 | G>V | No |
ClinGen Ensembl |
|
|
CA237495384 rs188445764 |
141 | G>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6611324 rs747716129 |
142 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936076668 CA237495363 |
142 | G>R | No |
ClinGen TOPMed gnomAD |
|
| rs1365960762 | 143 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535963986 CA6611322 |
147 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385153001 rs1408934435 |
147 | S>N | No |
ClinGen gnomAD |
|
|
rs1409375541 CA385152998 |
147 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385152995 rs1335507783 |
148 | S>P | No |
ClinGen gnomAD |
|
|
rs774765042 CA237495317 |
149 | S>G | No |
ClinGen Ensembl |
|
|
rs919835074 CA237495309 |
149 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 154 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385152304 rs1264049854 |
154 | L>V | No |
ClinGen TOPMed |
|
|
CA385152281 rs1445359556 |
156 | K>N | No |
ClinGen TOPMed |
|
|
CA6611313 rs371203487 |
162 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385152209 rs1157873320 |
162 | E>V | No |
ClinGen gnomAD |
|
|
rs1172209527 CA385152193 |
163 | D>E | No |
ClinGen TOPMed |
|
|
CA6611312 rs775943267 |
164 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765529486 CA6611311 |
165 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6611310 rs760014653 |
168 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611307 rs747628684 |
169 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6611308 rs771807845 |
169 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385152028 rs1349160945 |
178 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA237493563 rs1047717881 |
178 | T>I | No |
ClinGen Ensembl |
|
|
CA385152027 rs1349160945 |
178 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs374279484 CA6611304 |
179 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385152022 rs374279484 |
179 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611303 rs749236193 |
180 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237493554 rs767900906 |
180 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA385152014 rs376871530 |
181 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237493482 rs961466251 |
181 | I>T | No |
ClinGen TOPMed |
|
|
CA6611301 rs376871530 |
181 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6611298 rs757590911 |
183 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 183 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385151981 rs751647202 |
184 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM261553 rs751647202 CA6611297 |
184 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 186 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385151942 rs1420081992 |
187 | T>I | No |
ClinGen TOPMed |
|
|
rs764285105 CA6611296 |
187 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA237493394 rs911243864 |
188 | T>I | No |
ClinGen TOPMed |
|
|
CA385151934 rs911243864 |
188 | T>S | No |
ClinGen TOPMed |
|
|
rs758911223 CA385151927 |
189 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758911223 CA385151926 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758911223 CA6611295 |
189 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753255610 CA6611294 |
192 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759798287 CA6611292 |
194 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA385151845 rs1215145633 |
197 | F>L | No |
ClinGen gnomAD |
|
|
rs777094131 CA6611291 |
199 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1323208662 CA385151752 |
204 | Q>H | No |
ClinGen gnomAD |
|
|
rs1281782116 CA385151746 |
205 | V>L | No |
ClinGen gnomAD |
|
|
rs773791963 CA385151733 |
206 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773791963 CA6611288 |
206 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201890060 CA6611289 COSM431422 |
206 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6611287 rs768157270 |
207 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1392944796 CA385151709 |
208 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 209 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385151662 rs748863415 |
212 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA385151666 rs1428010839 |
212 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611286 rs748863415 |
212 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA237493330 rs200220468 |
215 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 215 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385151615 rs1178321895 |
215 | L>R | No |
ClinGen gnomAD |
|
|
rs1364768303 CA385151612 |
216 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 218 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433620830 CA385151575 |
219 | S>C | No |
ClinGen gnomAD |
|
|
CA385151577 rs1433620830 |
219 | S>G | No |
ClinGen gnomAD |
|
|
CA6611271 rs751206071 |
219 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6611270 rs763793318 |
220 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780852900 CA237492735 |
222 | K>R | No |
ClinGen Ensembl |
|
|
CA6611269 rs762424349 |
223 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1592353127 CA385151432 |
228 | A>V | No |
ClinGen Ensembl |
|
|
CA237492725 rs1007008759 |
230 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385151396 rs1251121115 |
232 | D>Y | No |
ClinGen gnomAD |
|
|
CA385151370 rs1448289475 |
233 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769575805 CA6611267 |
234 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385151284 rs1375155612 |
240 | Y>* | No |
ClinGen TOPMed |
|
|
CA385151271 rs1356697105 |
242 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385151233 rs1396556072 |
245 | P>T | No |
ClinGen gnomAD |
|
|
rs1565843797 CA385151220 |
246 | V>I | No |
ClinGen Ensembl |
|
|
rs1372266469 CA385151209 |
247 | Q>* | No |
ClinGen gnomAD |
|
|
rs200661843 CA6611265 |
247 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200661843 CA385151208 |
247 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs189241882 CA6611264 |
249 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385151175 rs778122771 |
251 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6611262 COSM225693 rs778122771 |
251 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6611259 rs779074599 |
253 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6611258 rs755383719 |
254 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053510067 CA237492633 |
254 | M>K | No |
ClinGen Ensembl |
|
|
TCGA novel CA385151133 rs1424907270 |
255 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs754372538 TCGA novel CA6611257 |
256 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA385151088 rs1555202437 |
258 | C>Y | No |
ClinGen Ensembl |
|
|
CA6611256 rs371944624 |
259 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385151071 rs371944624 |
259 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385151059 rs1484271981 |
260 | H>R | No |
ClinGen gnomAD |
|
|
rs368234850 CA6611255 |
262 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611253 rs374059255 |
264 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs938614689 CA237492566 |
265 | P>L | No |
ClinGen TOPMed |
|
|
rs987267738 CA237492561 |
266 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6611251 rs762693782 |
267 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611250 rs752097157 |
271 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6611248 rs759038034 |
272 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759038034 CA6611249 |
272 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371796001 CA6611247 |
272 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771045829 CA6611246 |
274 | P>A | No |
ClinGen ExAC TOPMed |
|
|
CA385150910 rs771045829 |
274 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA237492500 rs746661284 |
276 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 277 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773172848 CA6611244 |
278 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA237492466 rs948501788 |
281 | D>E | No |
ClinGen gnomAD |
|
|
rs1458528386 CA385150840 |
281 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183884396 COSM1512712 CA6611243 |
282 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6611242 rs748417344 |
282 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs200509256 CA6611241 |
284 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs968269851 CA237492421 |
284 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6611238 rs61733027 |
286 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611237 rs151024475 |
287 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746187561 CA6611236 |
288 | S>F | No |
ClinGen ExAC |
|
|
CA385150769 rs1258859557 |
288 | S>T | No |
ClinGen gnomAD |
|
|
rs1329531278 CA385150721 |
291 | C>Y | No |
ClinGen gnomAD |
|
|
rs1305560791 CA385150701 |
293 | Y>H | No |
ClinGen TOPMed |
|
|
rs1221530399 CA385150682 |
294 | T>I | No |
ClinGen gnomAD |
|
|
rs375940327 CA237492318 |
295 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611232 COSM549112 rs764857918 |
297 | R>* | lung Variant assessed as Somatic; 4.646e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371019313 COSM1362841 CA6611231 |
297 | R>Q | large_intestine Variant assessed as Somatic; 4.649e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA237492283 rs570649963 |
298 | D>E | No |
ClinGen Ensembl |
|
|
CA6611229 rs377625069 |
299 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753442863 CA6611230 |
299 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA237492241 rs1019783234 |
300 | P>L | No |
ClinGen Ensembl |
|
|
CA237492230 rs1007020174 |
301 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773086602 CA6611227 |
302 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA385150566 rs1400168626 |
303 | P>A | No |
ClinGen Ensembl |
|
|
CA6611226 rs767350455 |
304 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs761578612 CA6611225 |
305 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611224 rs774617369 |
306 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1387765935 CA385150477 |
307 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385150486 rs1422220671 |
307 | P>T | No |
ClinGen TOPMed |
|
|
rs1168327840 CA385150402 |
311 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6611223 rs768808903 |
311 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs200394316 CA6611221 |
313 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611219 rs746385862 |
320 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA237492176 rs1044603555 |
321 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385150203 rs1366536218 |
323 | V>A | No |
ClinGen gnomAD |
|
|
rs757630791 CA6611217 |
324 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6611218 rs757630791 |
324 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385150174 rs1413091427 |
326 | E>Q | No |
ClinGen gnomAD |
|
|
CA6611215 rs1022146508 |
328 | Q>* | No |
ClinGen TOPMed |
|
|
rs747384236 COSM1512411 CA6611214 |
328 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1172751155 CA385150096 |
330 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1428710954 CA385150090 |
331 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385150085 rs61733026 |
331 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61733026 CA6611213 |
331 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611212 rs558058108 |
332 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385150055 rs1280746897 |
333 | D>V | No |
ClinGen TOPMed |
|
|
rs377169750 CA6611211 |
336 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242423673 CA385149998 |
337 | G>E | No |
ClinGen gnomAD |
|
|
CA385150008 rs1449596314 |
337 | G>R | No |
ClinGen gnomAD |
|
|
CA385150004 rs1449596314 |
337 | G>W | No |
ClinGen gnomAD |
|
|
CA385149994 rs1185375575 |
338 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1185375575 CA385149997 |
338 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385149957 rs1443885878 |
341 | Q>E | No |
ClinGen gnomAD |
|
|
CA385149958 rs1443885878 |
341 | Q>K | No |
ClinGen gnomAD |
|
|
CA385149952 rs766001045 |
341 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766001045 CA6611210 |
341 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756050901 CA6611209 |
344 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6611208 rs750383207 |
346 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs938626019 CA237492052 |
347 | P>S | No |
ClinGen gnomAD |
|
|
rs1314911514 CA385149878 |
348 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385149879 rs1314911514 |
348 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs761645482 CA6611206 |
350 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs761645482 CA385149851 |
350 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1255609 rs1565841727 CA385149835 |
352 | K>T | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6611205 rs774052805 |
353 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385149805 rs1448168742 |
354 | P>L | No |
ClinGen TOPMed |
|
|
rs764336520 CA385149811 |
354 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764336520 CA6611204 |
354 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385149781 rs1188403053 |
357 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6611203 rs201458525 |
358 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1170138650 CA385149776 |
358 | Y>N | No |
ClinGen gnomAD |
|
|
CA6611202 rs775487994 |
361 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385149726 rs1229942857 |
362 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385149628 rs1319694853 |
368 | T>I | No |
ClinGen TOPMed |
|
|
rs1308322723 CA385149613 |
370 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1303988192 CA385149601 |
371 | R>K | No |
ClinGen TOPMed |
|
|
CA6611200 rs759672700 |
372 | M>I | No |
ClinGen ExAC |
|
|
CA385149562 rs1238044114 |
374 | T>A | No |
ClinGen gnomAD |
|
|
CA237491930 rs867978279 |
376 | L>P | No |
ClinGen TOPMed |
|
|
rs1180800816 CA385149543 |
376 | L>V | No |
ClinGen gnomAD |
|
|
rs1249847944 CA385149474 |
382 | L>R | No |
ClinGen gnomAD |
|
|
COSM240361 CA237491916 rs912527619 |
384 | S>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA385149441 rs1226970057 |
385 | N>D | No |
ClinGen gnomAD |
|
|
rs747363248 CA385149438 |
385 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA6611197 rs747363248 |
385 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6611196 rs201983343 |
386 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611195 rs768297467 |
387 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779921106 CA6611194 |
388 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779921106 CA6611193 |
388 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781152899 CA6611191 |
389 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781152899 CA6611190 |
389 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79969168 CA6611192 |
389 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757172821 CA6611189 |
392 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6611188 rs751316477 |
392 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197146439 CA385149315 |
396 | P>A | No |
ClinGen TOPMed |
|
|
rs752909410 CA6611185 |
397 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376768610 CA385149305 |
397 | I>V | No |
ClinGen TOPMed |
|
|
rs765494100 CA6611184 |
401 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA385149188 rs1413930877 |
402 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759584513 CA6611183 |
402 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs267603555 CA237491837 |
403 | S>N | No |
ClinGen Ensembl |
|
|
CA385149154 rs776608296 |
403 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs369785136 CA6611181 |
404 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385149133 rs1592348905 |
405 | D>A | No |
ClinGen Ensembl |
|
|
CA6611180 rs761100208 |
405 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs773560411 CA6611179 |
406 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA385149083 rs1291170084 |
407 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385149086 rs1291170084 |
407 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6611177 rs748582552 |
407 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6611176 rs779828908 |
409 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs779828908 CA385149038 |
409 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA385149026 rs1290607684 |
410 | R>K | No |
ClinGen gnomAD |
|
|
CA6611174 rs745329933 |
412 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385148994 rs745329933 |
412 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322614145 CA385148944 |
415 | S>N | No |
ClinGen TOPMed |
|
|
rs757156026 CA6611172 |
415 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751453945 CA6611171 |
417 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237491749 rs191703973 |
420 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs148518799 CA6611169 |
421 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611170 rs148518799 |
421 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1480015993 CA385148821 |
423 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1592348414 CA385148829 |
423 | T>P | No |
ClinGen Ensembl |
|
|
rs1438691091 CA385148808 |
424 | H>R | No |
ClinGen TOPMed |
|
|
CA385148818 rs1267105188 |
424 | H>Y | No |
ClinGen TOPMed |
|
|
rs765407519 CA6611166 |
425 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385148714 rs1164981021 |
429 | E>D | No |
ClinGen TOPMed |
|
|
CA6611164 rs753897433 |
429 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766374435 CA6611163 |
430 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237491721 rs961000518 |
431 | F>S | No |
ClinGen TOPMed |
|
|
rs1312016313 CA385148584 |
436 | S>N | No |
ClinGen gnomAD |
|
|
rs760876207 CA6611162 |
437 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6611161 rs773580545 |
437 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385148524 rs1592347924 |
438 | A>E | No |
ClinGen Ensembl |
|
|
CA237491673 rs954423101 |
441 | S>G | No |
ClinGen Ensembl |
|
|
rs1252530121 CA385148429 |
441 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237491662 rs1021822759 |
444 | Q>R | No |
ClinGen Ensembl |
|
|
CA385148326 rs1367243323 |
446 | N>I | No |
ClinGen gnomAD |
|
|
CA237491656 rs1012157162 |
446 | N>K | No |
ClinGen Ensembl |
|
|
CA385148305 rs1321185573 |
447 | L>F | No |
ClinGen gnomAD |
|
|
rs1565840046 CA385148269 |
449 | G>D | No |
ClinGen Ensembl |
|
|
rs762235368 CA6611159 |
450 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 452 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774886174 CA6611158 |
452 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237491627 rs752929437 |
453 | K>N | No |
ClinGen Ensembl |
|
|
CA6611156 rs374552133 |
453 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237491626 rs866328599 |
454 | S>F | No |
ClinGen Ensembl |
|
|
rs776136486 CA6611155 |
455 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746585717 CA6611154 |
457 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1002565155 CA237491597 |
458 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6611151 rs201793282 |
459 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592347393 CA385148109 |
460 | T>P | No |
ClinGen Ensembl |
|
|
rs187244716 CA237491527 |
462 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 464 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611150 rs747893818 |
464 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385148038 rs1211711670 |
464 | W>R | No |
ClinGen gnomAD |
|
|
rs778697620 CA385147971 |
468 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611149 rs778697620 |
468 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | D>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611147 rs754003139 |
469 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1340535794 CA385147963 |
469 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1228122392 CA385147915 |
471 | P>R | No |
ClinGen gnomAD |
|
|
CA237491496 rs536817892 |
471 | P>T | No |
ClinGen gnomAD |
|
|
rs766683806 CA6611146 |
472 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756127001 CA6611145 |
473 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6611144 rs533904016 COSM1211991 |
474 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6611143 rs370397366 |
474 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6611142 rs370397366 |
474 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385147866 rs61733025 |
475 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611141 rs61733025 |
475 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs887686132 CA237491430 |
475 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 476 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6611139 rs763438986 |
477 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1392123201 CA385147843 |
477 | L>V | No |
ClinGen gnomAD |
|
|
CA237491371 rs929090294 |
478 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6611138 rs776132703 |
479 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA237491366 rs919019422 |
481 | P>L | No |
ClinGen Ensembl |
|
|
CA6611137 rs183029428 |
483 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237491344 rs367594523 |
488 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA6611124 rs752104615 |
490 | V>A | No |
ClinGen ExAC |
|
|
rs1179489121 CA385146500 |
493 | N>H | No |
ClinGen gnomAD |
|
|
rs997173 CA385146435 |
496 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385146434 rs1186422189 |
496 | E>G | No |
ClinGen TOPMed |
|
|
VAR_049513 CA6611122 rs997173 |
496 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385146437 rs997173 |
496 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6611121 rs753139736 |
498 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA385146401 rs753139736 |
498 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs765902141 CA6611120 |
498 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385146379 rs1365467267 |
499 | S>T | No |
ClinGen gnomAD |
|
|
CA6611119 rs200382869 |
502 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6611118 rs772643563 |
502 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385146274 rs1328154509 |
504 | P>R | No |
ClinGen gnomAD |
|
|
CA6611116 rs137979349 |
505 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385146261 rs1464571672 |
505 | S>N | No |
ClinGen TOPMed |
|
|
CA6611115 rs774253285 |
506 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385146223 rs1308038103 |
507 | P>L | No |
ClinGen gnomAD |
|
|
rs1308038103 CA385146225 |
507 | P>R | No |
ClinGen gnomAD |
|
|
rs1365610984 CA385146212 |
508 | R>K | No |
ClinGen gnomAD |
|
|
rs1437774628 CA385146196 |
509 | H>Q | No |
ClinGen TOPMed |
|
|
CA385146189 rs1295743167 |
510 | P>S | No |
ClinGen gnomAD |
|
|
CA6611112 rs114438533 |
511 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 512 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374408280 CA6611111 |
512 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746087816 CA6611110 |
513 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs915076634 CA237490231 |
514 | Q>* | No |
ClinGen TOPMed |
|
|
rs781628616 CA6611109 |
517 | A>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 517 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 517 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385146039 rs1402787513 |
519 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 520 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757398136 CA6611107 |
520 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA385146026 rs1459203489 |
520 | D>V | No |
ClinGen gnomAD |
|
|
rs1363992382 CA385146007 |
521 | S>L | No |
ClinGen gnomAD |
No associated diseases with A2RU30
No regional properties for A2RU30
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A2RU30 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| COP9 signalosome | A protein complex that catalyzes the deneddylation of proteins, including the cullin component of SCF ubiquitin E3 ligase; deneddylation increases the activity of cullin family ubiquitin ligases. The signalosome is involved in many regulatory process, including some which control development, in many species; also regulates photomorphogenesis in plants; in many species its subunits are highly similar to those of the proteasome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| TCR signalosome | A multi-protein complex containing at least the T-cell receptor complex and the LAT (linker for activation of T cells) scaffold protein. Also contains a variety of signaling proteins including co-receptors, kinases, phosphatases and adaptors such as CD8. Connects events on the plasma membrane to distal signaling cascades to ultimately modulate T cell biology. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phospholipase binding | Binding to a phospholipase. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| COP9 signalosome assembly | The aggregation, arrangement and bonding together of a set of components to form a COP9 signalosome. |
| positive regulation of T cell differentiation in thymus | Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. |
| positive regulation of T cell receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| T cell differentiation in thymus | The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. |
| TCR signalosome assembly | The aggregation, arrangement and bonding together of a set of components to form a TCR signalosome. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3U132 | Tespa1 | Protein TESPA1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEASVLSPTS | WEKRRAWLRQ | SRNWQTQVLE | EEAAAALQDV | PDPEPSSLDD | VFQEGNPINK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEDWLQDCGY | SEEGFSEEAG | QFIYNGFCSH | GTSFEDDLTL | GAEATLLAAN | GKLFSRSFLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TARPCQLLDL | GCSLASSSMT | GGTNKTSSSI | SEILDKVQED | AEDVLFSLGF | GQEDHKDTSR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IPARFFTTPS | QAKGIDFQLF | LKSQVRRIEM | EDPCLMLASR | FKQVQTLAVT | ADAFFCLYSY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSKTPVQKFT | PSHMFWNCNH | PTDVPSIRIL | SREPEPQSPR | DRLRKAISKM | CLYTCPRDRP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPPHNTPKRN | SLDQVVLEVM | DKVKEEKQFL | QQDSDLGQFS | QEDPVPPAEG | KKLPTSPYPC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VFCCEEETQQ | RMSTVLAPSQ | TLDSNPKVPC | CTHSLPIEDP | QWSTDPAQIR | RELCSLPATN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TETHPAKDET | FWKRKSRARK | SLFQKNLMGR | KVKSLDLSIT | QQKWKQSVDR | PELRRSLSQQ |
| 490 | 500 | 510 | 520 | ||
| PQDTFDLEEV | QSNSEEEQSQ | SRWPSRPRHP | HHHQTFAGKD | S |